Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency
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منابع مشابه
Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of homocysteine remethylation disorders. The MTHFR catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Besides the well-known association of thrombophilic defects with MTHFR variants and elevated homocysteine, few patients with MTHFR...
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ژورنال
عنوان ژورنال: Neurology
سال: 2014
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000000591